RGD:13509228 Rat Genome Database

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Variant: RGD:13509228 -  Homo sapiens

RGD ID: 13509228
RS ID: rs1554983586
ClinVar ID: CV481988
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX6  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 31,816,329
GRCh38 11 31,794,781
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001355831.1:p.Cys41Ter
NP_001355832.1:p.Cys41Ter
NP_001355833.1:p.Cys41Ter
NP_001355834.1:p.Cys41Ter
More... 		12/25/2023 5 prime utr variant|nonsense pathogenic|likely pathogenic none provided
Disease Annotations     Click to see Annotation Detail View
aniridia 1  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:PAX6
Accession:NM_001368930
Location:5UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368914
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYCV
NSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLYV
IMKKRTM*

Gene Symbol:PAX6
Accession:NM_001368908
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368902
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368929
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKK
KKKKERKYCVNSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFG
VLFVNGHLYVIMKKRTM*

Gene Symbol:PAX6
Accession:NM_001604
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368922
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368889
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001258464
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368917
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYCVNSVSDYGDTTVELS
GKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLYVIMKKRTM*

Gene Symbol:PAX6
Accession:NM_001368927
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368911
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHKGHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGS
IRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDK
LRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEAL
EKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTP
VSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYC
VNSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLY
VIMKKRTM*

Gene Symbol:PAX6
Accession:NM_001368906
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368887
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368909
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368928
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSSINRVLRNLASEKQQMGADGMYDKLR
MLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEK
EFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVS
SFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMG
TSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368903
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368891
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001127612
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_000280
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368915
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYCVNSVSDYGDTTVELS
GKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLYVIMKKRTM*

Gene Symbol:PAX6
Accession:NM_001368893
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368916
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYCVNSVSDYGDTTVELS
GKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLYVIMKKRTM*

Gene Symbol:PAX6
Accession:NM_001368913
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYCV
NSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLYV
IMKKRTM*

Gene Symbol:PAX6
Accession:NM_001368907
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368912
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYCV
NSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLYV
IMKKRTM*

Gene Symbol:PAX6
Accession:NM_001368905
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368920
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVILPAPPHSPPPRPSTLNALSSFLTVSNGCVSK
ILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQ
QMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRT
SFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSV
YQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPP
HMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001310158
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368923
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001310159
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQVSAAGGGLHNPGPREVRSGSGPADLIGCVCTLESFSHYSDWLDQSSRRQSIPSLLS
D*

Gene Symbol:PAX6
Accession:NM_001368894
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368890
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368910
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEAFYCESGQTSEISEPHIRAPWNPAAPSQSQHAEQGGRSSAAEIKRAVAGANRLPALSLTCGGRTCLWLKPSPGSDSH
VCTGGHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVA
TPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTR
PGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFA
RERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTD
TALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISP
GVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368892
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368924
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368899
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368921
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSK
KKKKKKKERKYCVNSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFI
HFGVLFVNGHLYVIMKKRTM*

Gene Symbol:PAX6
Accession:NM_001368926
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368925
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368904
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001258463
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001310161
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001258465
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001310160
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368919
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 216
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVILPAPPHSPPPRPSTLNALSSFLTTHADAKVQ
VLDNQNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVS
SINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQ
MRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNT
PSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTS
PSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368900
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001258462
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368888
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVAT
PEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRP
GWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDT
ALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368918
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 216
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVILPAPPHSPPPRPSTLNALSSFLTTHADAKVQ
VLDNQNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVS
SINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQ
MRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNT
PSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTS
PSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368901
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDG*QQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTS
FTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVY
QPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPH
MQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NR_160917
Location:EXON;NON-CODING

Gene Symbol:PAX6
Accession:NR_160916
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:18414213  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000579241 CLINVAR
  RCV004586806 CLINVAR
dbSNP (RS) rs1554983586 CLINVAR
MedGen C0344542 CLINVAR
  C3661900 CLINVAR
NCBI Gene PAX6 CLINVAR
OMIM 106210 CLINVAR
  607108 CLINVAR